Autor: |
Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran |
Jazyk: |
angličtina |
Rok vydání: |
2023 |
Předmět: |
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Zdroj: |
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023) |
Druh dokumentu: |
article |
ISSN: |
2041-1723 |
DOI: |
10.1038/s41467-023-37110-x |
Popis: |
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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